From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)

Congenital disorders of glycosylation are a growing group of inborn errors of protein glycosylation. Cardiac involvement is frequently observed in the most common form, PMM2-CDG, especially hypertrophic cardiomyopathy. Dilated cardiomyopathy, however, has been only observed in a few CDG subtypes, us...

Descripción completa

Detalles Bibliográficos
Autores principales: Kapusta, Livia, Zucker, Nili, Frenckel, George, Medalion, Benjamin, Gal, Tuvia Ben, Birk, Einat, Mandel, Hanna, Nasser, Nadim, Morgenstern, Sarah, Zuckermann, Andreas, Lefeber, Dirk J., de Brouwer, Arjen, Wevers, Ron A., Lorber, Avraham, Morava, Eva
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2012
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3593007/
https://www.ncbi.nlm.nih.gov/pubmed/22327749
http://dx.doi.org/10.1007/s10741-012-9302-6

Ejemplares similares

Ejemplares similares